为了验证视网膜母细胞瘤MRI特征与基因表达谱之间的关联，评估视网膜母细胞瘤中放射基因组学的可重复性。本回顾性多中心队列研究纳入了具有基因表达数据和MRI的视网膜母细胞瘤患者。利用MRI特征（盲评分，不干扰临床数据）和匹配的全基因组基因表达数据进行放射基因组学分析。首先分别处理和分析来自每个中心的表达数据。不同中心的规范化表达值后通过其Z score进行合并，以进行跨中心验证分析。MRI特征与感光受体基因表达（放射基因组学分析）之间进行非参数相关分析，该基因表达标记可提示疾病进展。结果与先前描述的队列进行比较。共纳入了36名视网膜母细胞瘤患者，其中15名为女性（42%），平均年龄为24（标准差18）个月。与之前的评估类似，该验证研究表明低感光受体基因表达与晚期成像特征相关。与低感光受体相关的验证成像特征包括多焦点病灶、累及整个视网膜或全球和弥漫性生长模式（所有的p < 0.05）。还存在一些放射基因组学关联未经验证。一部分放射基因组学关联无法验证，强调验证研究的重要性。然而，跨中心验证显示，与感光受体基因表达相关的成像特征突出了放射基因组学在视网膜母细胞瘤中无创地提示分子亚型的能力。在保留眼球的视网膜母细胞瘤治疗策略时代，放射基因组学可以作为一种基于组织学材料的分子亚型代用品。• 由于越来越多的视网膜母细胞瘤采用保留眼球的方法进行治疗，不依赖组织学材料的MRI特征对分子亚型的提示具有重要意义。• 部分视网膜母细胞瘤MRI特征与基因表达谱（放射基因组学）之间的关联得到了验证。• 放射基因组学可能是一种非侵入性技术，可以提供视网膜母细胞瘤的分子构成信息。© 2023. 作者。

To validate associations between MRI features and gene expression profiles in retinoblastoma, thereby evaluating the repeatability of radiogenomics in retinoblastoma.In this retrospective multicenter cohort study, retinoblastoma patients with gene expression data and MRI were included. MRI features (scored blinded for clinical data) and matched genome-wide gene expression data were used to perform radiogenomic analysis. Expression data from each center were first separately processed and analyzed. The end product normalized expression values from different sites were subsequently merged by their Z-score to permit cross-sites validation analysis. The MRI features were non-parametrically correlated with expression of photoreceptorness (radiogenomic analysis), a gene expression signature informing on disease progression. Outcomes were compared to outcomes in a previous described cohort.Thirty-six retinoblastoma patients were included, 15 were female (42%), and mean age was 24 (SD 18) months. Similar to the prior evaluation, this validation study showed that low photoreceptorness gene expression was associated with advanced stage imaging features. Validated imaging features associated with low photoreceptorness were multifocality, a tumor encompassing the entire retina or entire globe, and a diffuse growth pattern (all p < 0.05). There were a number of radiogenomic associations that were also not validated.A part of the radiogenomic associations could not be validated, underlining the importance of validation studies. Nevertheless, cross-center validation of imaging features associated with photoreceptorness gene expression highlighted the capability radiogenomics to non-invasively inform on molecular subtypes in retinoblastoma.Radiogenomics may serve as a surrogate for molecular subtyping based on histopathology material in an era of eye-sparing retinoblastoma treatment strategies.• Since retinoblastoma is increasingly treated using eye-sparing methods, MRI features informing on molecular subtypes that do not rely on histopathology material are important. • A part of the associations between retinoblastoma MRI features and gene expression profiles (radiogenomics) were validated. • Radiogenomics could be a non-invasive technique providing information on the molecular make-up of retinoblastoma.© 2023. The Author(s).